Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630224G>C , CM000674.2:g.123630224G>C | GRCh38 |
| NC_000012.11:g.124114771G>C , CM000674.1:g.124114771G>C | GRCh37 |
| NC_000012.10:g.122680724G>C | NCBI36 |
| NG_015862.1:g.8553C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.314C>G MANE Select | ENSP00000416250.2:p.Ser105Ter | |
| ENST00000424014.6:c.314C>G | ENSP00000416250.2:p.Ser105Ter | |
| ENST00000452159.6:n.445C>G | ||
| ENST00000534960.5:c.361C>G | ||
| ENST00000537073.1:c.314C>G | ENSP00000444183.1:p.Ser105Ter | |
| ENST00000539951.5:c.275C>G | ENSP00000438060.1:p.Ser92Ter | |
| NM_001414.3:c.314C>G | NP_001405.1:p.Ser105Ter | |
| NM_001414.4:c.314C>G MANE Select | NP_001405.1:p.Ser105Ter |